Preparing for genetic testingEducational approach not enough

In Newfoundland for the first annual meeting of the Colorectal Cancer Interdisciplinary Health Research Team (L-R): Drs. Mike Woods, Mary Jane Esplen and John McLaughlin.

Genetic testing can offer critical information to people, but sometimes the possibility of receiving such information is met with fear and anxiety.

Dr. Mary Jane Esplen is a National Cancer Institute of Canada Scientist who studies the psychosocial and behavioural impact of genetic testing for cancer predisposition. She is a member of the Colorectal Cancer Interdisciplinary Health Research Team, and during the first annual meeting of the group at Memorial, she presented an overview of this emerging field of study.

"Most research so far is on the breast cancer gene," said Dr. Esplen, who is head of the program of psychosocial and psychotherapy research in cancer genetics at Toronto’s Samuel Lunenfeld Research Institute. "I often get asked if there is some sort of psychological test available prior to genetic testing to see how the person will handle the information."
The genetic testing process consists of pre-test counseling, collecting family history, assessing eligibility and risk level, providing information on the potential meaning of post-test results and discussing family implications. In terms of breast cancer risk, if the person carries the breast cancer gene, counseling can look at options such as breast self-exams and mammograms, surgical options including ovary removal, prophylactic mastectomies and breast reconstruction, and chemotherapy prevention. When it comes to colon cancer, if the person is in a family with a history of this disease, strategies for prevention include dietary modification, increased surveillance including colonoscopy, chemoprevention and prophylactic surgery.
Genetic information is futuristic and control over disease onset is limited. "The reason why people want genetic testing is to reduce uncertainty, participate in research, learn about their offspring’s chances of getting the disease, explore further surveillance or treatment, and make childbearing decisions."
Dr. Esplen said some people decide against genetic testing because they "don’t want to open a can of worms…." She also said it can be associated with a sense of guilt because people are afraid of passing on a genetic defect.

The highest level of distress in the genetic testing process is experienced while waiting for test results. Once results are obtained, most people experience a decrease in worry, although some have difficulty adjusting to the results. "There can be survivor guilt if they don’t carry the cancer gene," said Dr. Esplen.

In terms of helping people come to grips with the impact of genetic testing, Dr. Esplen focuses on individual and group psychotherapy. She said the people who do best are those who live in the present, living each day as fully as possible.

"An educational approach is not enough when it comes to preparing people for genetic testing. We need supportive care along the way, around surgery, and we need to offer counseling for other family members."